Variant #0000831624 (NC_000009.11:g.35079462A>T, FANCG(NM_004629.1):c.60T>A)

Individual ID 00398025
Chromosome 9
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.35079462A>T
DNA change (hg38) g.35079465A>T
Published as -
ISCN -
DB-ID FANCG_000066 See all 2 reported entries
Variant remarks combination variants not reported
Reference PubMed: Pilonetto 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/128 cases FA
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCG NM_004629.1 +?/. 1 c.60T>A r.(?) p.(Asn20Lys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000399269 DNA SEQ - - FANCG 1 Johan den Dunnen